PRENATAL DIAGNOSIS OF A DE NOVO PARTIAL TRISOMY 6q AND PARTIAL MONOSOMY 18p ASSOCIATED WITH CEPHALOCELE: A CASE REPORT
BALKAN JOURNAL OF MEDICAL GENETICS, vol.23, no.1, pp.99-102, 2020 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 23 Issue: 1
- Publication Date: 2020
- Doi Number: 10.2478/bjmg-2020-0014
- Journal Name: BALKAN JOURNAL OF MEDICAL GENETICS
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, Directory of Open Access Journals
- Page Numbers: pp.99-102
- Istanbul University Affiliated: Yes
Abstract
A 28-year-old woman underwent amniocentesis at 18 weeks' gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeks' gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.